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Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents

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ARTICLE DOWNLOAD

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents

10.00$

Ivana Jochmanova, April Melody T. Abcede, Ruby Jane S. Guerrero, Chandy Lou P. Malong, Robert Wesley, Thanh Huynh, Melissa K. Gonzales, Katherine I. Wolf, Abhishek Jha, Marianne Knue, Tamara Prodanov, Naris Nilubol, Leilani B. Mercado-Asis, Constantine A. Stratakis & Karel Pacak 

Abstract

Purpose

Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children with only a few SDHB mutation-related cases. Previous studies on children were conducted in small cohorts. This large set of pediatric patients provides robust data in the evaluation of clinical outcomes.

Methods

Sixty-four pediatric PHEO/PGL patients with SDHB germline mutations were included in the present study. The clinical presentation, disease course, and survival rate were evaluated.

Results

Thirty-eight males and 26 females were diagnosed with PHEO/PGL at a median age of 13 years. The majority of patients displayed norepinephrine hypersecretion and 73.44% initially presented with a solitary tumor. Metastases developed in 70% of patients at the median age of 16 years and were mostly diagnosed first 2 years and in years 12–18 post-diagnosis. The presence of metastases at the time of diagnosis had a strong negative impact on survival in males but not in females. The estimated 5-, 10-, and 20-year survival rates were 100%, 97.14%, and 77.71%, respectively.

Conclusion

The present report has highlighted several important aspects in the management of pediatric patients with SDHB mutations associated-PHEO/PGL. Initial diagnostic evaluation of SDHB mutation carriers should be started at age of 5–6 years with initial work-up focusing on abdominal region. Thorough follow-up is crucial first 2 years post-diagnosis and more frequent follow-ups are needed in years 10–20 post-diagnosis due to the increased risk of metastases. Although this age group developed metastasis as early as 5 years from diagnosis, we have shown that the overall 20-year prognosis and survival are good.

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Year 2020
Language English
Format PDF
DOI 10.1007/s00432-020-03138-5